Incidental Mutation 'R3822:Ccdc13'
| ID |
275232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc13
|
| Ensembl Gene |
ENSMUSG00000079235 |
| Gene Name |
coiled-coil domain containing 13 |
| Synonyms |
2900041A11Rik |
| MMRRC Submission |
040884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R3822 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121626693-121668527 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 121660085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 76
(L76F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000135986]
|
| AlphaFold |
D3YV10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135986
AA Change: L76F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114787
Gene: ENSMUSG00000079235
AA Change: L76F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
46 |
N/A |
INTRINSIC |
|
coiled coil region
|
70 |
103 |
N/A |
INTRINSIC |
|
coiled coil region
|
139 |
178 |
N/A |
INTRINSIC |
|
coiled coil region
|
206 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
304 |
N/A |
INTRINSIC |
|
coiled coil region
|
323 |
370 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
458 |
N/A |
INTRINSIC |
|
coiled coil region
|
550 |
604 |
N/A |
INTRINSIC |
|
coiled coil region
|
648 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152043
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
| Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
| Anp32e |
A |
T |
3: 95,842,181 (GRCm39) |
I100L |
probably benign |
Het |
| Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
| Chka |
A |
G |
19: 3,932,038 (GRCm39) |
|
probably benign |
Het |
| Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
| Cth |
A |
G |
3: 157,624,136 (GRCm39) |
F127S |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,184,070 (GRCm39) |
|
probably benign |
Het |
| Flad1 |
T |
A |
3: 89,318,494 (GRCm39) |
I20F |
probably damaging |
Het |
| Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,800,260 (GRCm39) |
S113P |
probably benign |
Het |
| Herpud2 |
G |
A |
9: 25,036,220 (GRCm39) |
Q147* |
probably null |
Het |
| Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
| Hlcs |
T |
C |
16: 94,068,840 (GRCm39) |
N274D |
probably benign |
Het |
| Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
| Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
| Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
| Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,539,913 (GRCm39) |
I176T |
possibly damaging |
Het |
| Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
| Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
| Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
| Psmb7 |
A |
T |
2: 38,503,440 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,664,550 (GRCm39) |
T60M |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,706,092 (GRCm39) |
V639A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
| Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,867,451 (GRCm39) |
|
probably benign |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,251 (GRCm39) |
V19E |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
| Wdr4 |
T |
G |
17: 31,731,195 (GRCm39) |
Q55P |
probably damaging |
Het |
| Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,657,769 (GRCm39) |
L714Q |
probably damaging |
Het |
|
| Other mutations in Ccdc13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:Ccdc13
|
APN |
9 |
121,639,150 (GRCm39) |
splice site |
probably benign |
|
|
IGL01306:Ccdc13
|
APN |
9 |
121,656,429 (GRCm39) |
missense |
probably benign |
0.37 |
|
ANU23:Ccdc13
|
UTSW |
9 |
121,656,429 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0112:Ccdc13
|
UTSW |
9 |
121,642,547 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0144:Ccdc13
|
UTSW |
9 |
121,656,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0360:Ccdc13
|
UTSW |
9 |
121,627,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Ccdc13
|
UTSW |
9 |
121,627,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:Ccdc13
|
UTSW |
9 |
121,642,515 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1674:Ccdc13
|
UTSW |
9 |
121,638,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Ccdc13
|
UTSW |
9 |
121,654,134 (GRCm39) |
splice site |
probably null |
|
|
R1710:Ccdc13
|
UTSW |
9 |
121,648,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3821:Ccdc13
|
UTSW |
9 |
121,660,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3962:Ccdc13
|
UTSW |
9 |
121,628,005 (GRCm39) |
intron |
probably benign |
|
|
R4695:Ccdc13
|
UTSW |
9 |
121,649,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Ccdc13
|
UTSW |
9 |
121,662,800 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5058:Ccdc13
|
UTSW |
9 |
121,646,613 (GRCm39) |
intron |
probably benign |
|
|
R5283:Ccdc13
|
UTSW |
9 |
121,637,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Ccdc13
|
UTSW |
9 |
121,628,109 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5601:Ccdc13
|
UTSW |
9 |
121,629,638 (GRCm39) |
nonsense |
probably null |
|
|
R5623:Ccdc13
|
UTSW |
9 |
121,662,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5653:Ccdc13
|
UTSW |
9 |
121,627,853 (GRCm39) |
makesense |
probably null |
|
|
R5665:Ccdc13
|
UTSW |
9 |
121,643,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5975:Ccdc13
|
UTSW |
9 |
121,656,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6212:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6213:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6214:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6215:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6222:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6223:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R6257:Ccdc13
|
UTSW |
9 |
121,627,975 (GRCm39) |
intron |
probably benign |
|
|
R7053:Ccdc13
|
UTSW |
9 |
121,662,904 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7664:Ccdc13
|
UTSW |
9 |
121,643,279 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7909:Ccdc13
|
UTSW |
9 |
121,662,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7943:Ccdc13
|
UTSW |
9 |
121,628,196 (GRCm39) |
missense |
unknown |
|
|
R8464:Ccdc13
|
UTSW |
9 |
121,649,824 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8827:Ccdc13
|
UTSW |
9 |
121,645,765 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9445:Ccdc13
|
UTSW |
9 |
121,627,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF006:Ccdc13
|
UTSW |
9 |
121,643,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGTGAGCACACCTGACC -3'
(R):5'- ACCCAGCTCTGAGAACAGTATG -3'
Sequencing Primer
(F):5'- ACCTGACCCGGCACTGTTC -3'
(R):5'- AGCTCTGAGAACAGTATGTTTAAATC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation